-
1
-
-
0027231001
-
Complications of the naevoid basal cell carcinoma syndrome: Results of a population based study
-
Evans DG, Ladusans EJ, Rimmer S, et al: Complications of the naevoid basal cell carcinoma syndrome: Results of a population based study. J Med Genet 30:460-464, 1993
-
(1993)
J Med Genet
, vol.30
, pp. 460-464
-
-
Evans, D.G.1
Ladusans, E.J.2
Rimmer, S.3
-
2
-
-
0031002840
-
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome
-
Kimonis VE, Goldstein AM, Pastakia B, et al: Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69:299-308, 1997
-
(1997)
Am J Med Genet
, vol.69
, pp. 299-308
-
-
Kimonis, V.E.1
Goldstein, A.M.2
Pastakia, B.3
-
3
-
-
0028271569
-
Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals
-
Shanley S, Ratcliffe J, Hockey A, et al: Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals. Am J Med Genet 50:282-290, 1994
-
(1994)
Am J Med Genet
, vol.50
, pp. 282-290
-
-
Shanley, S.1
Ratcliffe, J.2
Hockey, A.3
-
4
-
-
0026043909
-
The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma
-
Evans DG, Farndon PA, Burnell LD, et al: The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer 64:959-961, 1991
-
(1991)
Br J Cancer
, vol.64
, pp. 959-961
-
-
Evans, D.G.1
Farndon, P.A.2
Burnell, L.D.3
-
5
-
-
0030913738
-
The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma
-
Cowan R, Hoban P, Kelsey A, et al: The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma. Br J Cancer 76:141-145, 1997
-
(1997)
Br J Cancer
, vol.76
, pp. 141-145
-
-
Cowan, R.1
Hoban, P.2
Kelsey, A.3
-
7
-
-
15844386165
-
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome
-
Hahn H, Wicking C, Zaphiropoulous PG, et al: Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85:841-851, 1996
-
(1996)
Cell
, vol.85
, pp. 841-851
-
-
Hahn, H.1
Wicking, C.2
Zaphiropoulous, P.G.3
-
8
-
-
28644451209
-
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory
-
Klein RD, Dykas DJ, Bale AE: Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genet Med 7:611-619, 2005
-
(2005)
Genet Med
, vol.7
, pp. 611-619
-
-
Klein, R.D.1
Dykas, D.J.2
Bale, A.E.3
-
9
-
-
33746718114
-
DHPLC analysis of patients with nevoid basal cell carcinoma syndrome reveals novel PTCH missense mutations in the sterol-sensing domain
-
Marsh A, Wicking C, Wainwright B, et al: DHPLC analysis of patients with nevoid basal cell carcinoma syndrome reveals novel PTCH missense mutations in the sterol-sensing domain. Hum Mutat 26:283, 2005
-
(2005)
Hum Mutat
, vol.26
, pp. 283
-
-
Marsh, A.1
Wicking, C.2
Wainwright, B.3
-
10
-
-
33747162695
-
PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: A French study
-
Soufir N, Gerard B, Portela M, et al: PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: A French study. Br J Cancer 95:548-553, 2006
-
(2006)
Br J Cancer
, vol.95
, pp. 548-553
-
-
Soufir, N.1
Gerard, B.2
Portela, M.3
-
11
-
-
12844276949
-
Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident
-
Wicking C, Shanley S, Smyth I, et al: Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am J Hum Genet 60:21-26, 1997
-
(1997)
Am J Hum Genet
, vol.60
, pp. 21-26
-
-
Wicking, C.1
Shanley, S.2
Smyth, I.3
-
12
-
-
79955437939
-
Basal cell carcinomas in Gorlin syndrome: A review of 202 patients
-
Jones EA, Sajid MI, Shenton A, et al: Basal cell carcinomas in Gorlin syndrome: A review of 202 patients. J Skin Cancer 2011:217378, 2011
-
(2011)
J Skin Cancer
, vol.2011
, pp. 217378
-
-
Jones, E.A.1
Sajid, M.I.2
Shenton, A.3
-
13
-
-
84907169371
-
Intronic splicing mutations in PTCH1 cause Gorlin syndrome
-
epub ahead of print on March 22
-
Bholah Z, Smith MJ, Byers HJ, et al: Intronic splicing mutations in PTCH1 cause Gorlin syndrome. Fam Cancer [epub ahead of print on March 22, 2014]
-
(2014)
Fam Cancer
-
-
Bholah, Z.1
Smith, M.J.2
Byers, H.J.3
-
14
-
-
78649565715
-
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds
-
Bauer P, Stevanin G, Beetz C, et al: Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds. J Neurol Neurosurg Psychiatry 81:1229-1232, 2010
-
(2010)
J Neurol Neurosurg Psychiatry
, vol.81
, pp. 1229-1232
-
-
Bauer, P.1
Stevanin, G.2
Beetz, C.3
-
15
-
-
33845696394
-
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia
-
Beetz C, Nygren AO, Schickel J, et al: High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. Neurology 67:1926-1930, 2006
-
(2006)
Neurology
, vol.67
, pp. 1926-1930
-
-
Beetz, C.1
Nygren, A.O.2
Schickel, J.3
-
16
-
-
84870410019
-
Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation
-
Kijima C, Miyashita T, Suzuki M, et al: Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation. Fam Cancer 11:565-570, 2012
-
(2012)
Fam Cancer
, vol.11
, pp. 565-570
-
-
Kijima, C.1
Miyashita, T.2
Suzuki, M.3
-
17
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, et al: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57, 2002
-
(2002)
Nucleic Acids Res
, vol.30
, pp. e57
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
-
18
-
-
0036648241
-
Mutations in SUFU predispose to medulloblastoma
-
Taylor MD, Liu L, Raffel C, et al: Mutations in SUFU predispose to medulloblastoma. Nat Genet 31:306-310, 2002
-
(2002)
Nat Genet
, vol.31
, pp. 306-310
-
-
Taylor, M.D.1
Liu, L.2
Raffel, C.3
-
19
-
-
33846406366
-
Radiation-induced brain tumours in nevoid basal cell carcinoma syndrome: Implications for treatment and surveillance
-
Choudry Q, Patel HC, Gurusinghe NT, et al: Radiation-induced brain tumours in nevoid basal cell carcinoma syndrome: Implications for treatment and surveillance. Childs Nerv Syst 23:133-136, 2007
-
(2007)
Childs Nerv Syst
, vol.23
, pp. 133-136
-
-
Choudry, Q.1
Patel, H.C.2
Gurusinghe, N.T.3
-
20
-
-
84863979877
-
High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age
-
Brugiéres L, Remenieras A, Pierron G, et al: High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. J Clin Oncol 30:2087-2093, 2012
-
(2012)
J Clin Oncol
, vol.30
, pp. 2087-2093
-
-
Brugiéres, L.1
Remenieras, A.2
Pierron, G.3
-
21
-
-
79958127479
-
Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma
-
Slade I, Murray A, Hanks S, et al: Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma. Fam Cancer 10:337-342, 2011
-
(2011)
Fam Cancer
, vol.10
, pp. 337-342
-
-
Slade, I.1
Murray, A.2
Hanks, S.3
-
22
-
-
84896096387
-
Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition
-
Kool M, Jones DT, Jäger N, et al: Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition. Cancer Cell 25:393-405, 2014
-
(2014)
Cancer Cell
, vol.25
, pp. 393-405
-
-
Kool, M.1
Jones, D.T.2
Jäger, N.3
-
23
-
-
79954444747
-
Medulloblastoma: Clinicopathological correlates of SHH, WNT, and non-SHH/WNT molecular subgroups
-
Ellison DW, Dalton J, Kocak M, et al: Medulloblastoma: Clinicopathological correlates of SHH, WNT, and non-SHH/WNT molecular subgroups. Acta Neuropathol 121:381-396, 2011
-
(2011)
Acta Neuropathol
, vol.121
, pp. 381-396
-
-
Ellison, D.W.1
Dalton, J.2
Kocak, M.3
-
24
-
-
84864444165
-
Novel mutations target distinct subgroups of medulloblastoma
-
Robinson G, Parker M, Kranenburg TA, et al: Novel mutations target distinct subgroups of medulloblastoma. Nature 488:43-48, 2012
-
(2012)
Nature
, vol.488
, pp. 43-48
-
-
Robinson, G.1
Parker, M.2
Kranenburg, T.A.3
-
25
-
-
84903817160
-
Prognostic significance of clinical, histopathological, and molecular characteristics of medulloblastomas in the prospective HIT2000 multicenter clinical trial cohort
-
Pietsch T, Schmidt R, Remke M, et al: Prognostic significance of clinical, histopathological, and molecular characteristics of medulloblastomas in the prospective HIT2000 multicenter clinical trial cohort. Acta Neuropathol 128:137-149, 2014
-
(2014)
Acta Neuropathol
, vol.128
, pp. 137-149
-
-
Pietsch, T.1
Schmidt, R.2
Remke, M.3
-
26
-
-
67649869544
-
Identification of a SUFU germline mutation in a family with Gorlin syndrome
-
Pastorino L, Ghiorzo P, Nasti S, et al: Identification of a SUFU germline mutation in a family with Gorlin syndrome. Am J Med Genet A 149A:1539-1543, 2009
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 1539-1543
-
-
Pastorino, L.1
Ghiorzo, P.2
Nasti, S.3
-
27
-
-
79957880221
-
Nevoid basal cell carcinoma syndrome
-
Pagon RA, Adam MP, Ardinger HH, et al (eds): Seattle, WA, University of Washington
-
Evans DG, Farndon PA: Nevoid basal cell carcinoma syndrome, in Pagon RA, Adam MP, Ardinger HH, et al (eds): GeneReviews. Seattle, WA, University of Washington, 1993-2014
-
(1993)
GeneReviews
-
-
Evans, D.G.1
Farndon, P.A.2
-
28
-
-
84882287372
-
Molecular pathogenesis of keratocystic odontogenic tumors developing in nevoid basal cell carcinoma syndrome
-
Suzuki M, Nagao K, Hatsuse H, et al: Molecular pathogenesis of keratocystic odontogenic tumors developing in nevoid basal cell carcinoma syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol 116:348-353, 2013
-
(2013)
Oral Surg Oral Med Oral Pathol Oral Radiol
, vol.116
, pp. 348-353
-
-
Suzuki, M.1
Nagao, K.2
Hatsuse, H.3
-
29
-
-
84866100107
-
Loss of SUFU function in familial multiple meningioma
-
Aavikko M, Li SP, Saarinen S, et al: Loss of SUFU function in familial multiple meningioma. Am J Hum Genet 91:520-526, 2012
-
(2012)
Am J Hum Genet
, vol.91
, pp. 520-526
-
-
Aavikko, M.1
Li, S.P.2
Saarinen, S.3
-
30
-
-
84861876867
-
Inhibiting the hedgehog pathway in patients with the basal-cell nevus syndrome
-
Tang JY, Mackay-Wiggan JM, Aszterbaum M, et al: Inhibiting the hedgehog pathway in patients with the basal-cell nevus syndrome. N Engl J Med 366:2180-2188, 2012
-
(2012)
N Engl J Med
, vol.366
, pp. 2180-2188
-
-
Tang, J.Y.1
Mackay-Wiggan, J.M.2
Aszterbaum, M.3
-
31
-
-
84888082077
-
Phase I study of vismodegib in children with recurrent or refractory medulloblastoma: A Pediatric Brain Tumor Consortium study
-
Gajjar A, Stewart CF, Ellison DW, et al: Phase I study of vismodegib in children with recurrent or refractory medulloblastoma: A Pediatric Brain Tumor Consortium study. Clin Cancer Res 19:6305-6312, 2013
-
(2013)
Clin Cancer Res
, vol.19
, pp. 6305-6312
-
-
Gajjar, A.1
Stewart, C.F.2
Ellison, D.W.3
-
32
-
-
79954611501
-
Phase I trial of hedgehog pathway inhibitor vismodegib (GDC-0449) in patients with refractory, locally advanced or metastatic solid tumors
-
LoRusso PM, Rudin CM, Reddy JC, et al: Phase I trial of hedgehog pathway inhibitor vismodegib (GDC-0449) in patients with refractory, locally advanced or metastatic solid tumors. Clin Cancer Res 17:2502-2511, 2011
-
(2011)
Clin Cancer Res
, vol.17
, pp. 2502-2511
-
-
LoRusso, P.M.1
Rudin, C.M.2
Reddy, J.C.3
-
33
-
-
84875960871
-
Early and persisting response to vismodegib in a patient with bone metastasizing medulloblastoma
-
Asklund T, Henriksson R, Axelsson J, et al: Early and persisting response to vismodegib in a patient with bone metastasizing medulloblastoma. Acta Oncol 52:862-866, 2013
-
(2013)
Acta Oncol
, vol.52
, pp. 862-866
-
-
Asklund, T.1
Henriksson, R.2
Axelsson, J.3
-
34
-
-
84877605428
-
A phase I/II study of LDE225, a smoothened (Smo) antagonist, in pediatric patients with recurrent medulloblastoma (MB) or other solid tumors
-
abstr 9519
-
Geoerger B, Aerts I, Casanova M, et al: A phase I/II study of LDE225, a smoothened (Smo) antagonist, in pediatric patients with recurrent medulloblastoma (MB) or other solid tumors. J Clin Oncol 30:610s, 2012 (suppl; abstr 9519)
-
(2012)
J Clin Oncol
, vol.30
, pp. 610s
-
-
Geoerger, B.1
Aerts, I.2
Casanova, M.3
-
35
-
-
84872417679
-
Itraconazole and arsenic trioxide inhibit hedgehog pathway activation and tumor growth associated with acquired resistance to smoothened antagonists
-
Kim J, Aftab BT, Tang JY, et al: Itraconazole and arsenic trioxide inhibit hedgehog pathway activation and tumor growth associated with acquired resistance to smoothened antagonists. Cancer Cell 23:23-34, 2013
-
(2013)
Cancer Cell
, vol.23
, pp. 23-34
-
-
Kim, J.1
Aftab, B.T.2
Tang, J.Y.3
-
36
-
-
84865427746
-
Alltrans-retinoic acid, idarubicin, and IV arsenic trioxide as initial therapy in acute promyelocytic leukemia (APML4)
-
quiz 1752
-
Iland HJ, Bradstock K, Supple SG, et al: Alltrans-retinoic acid, idarubicin, and IV arsenic trioxide as initial therapy in acute promyelocytic leukemia (APML4). Blood 120:1570-1580, 2012; quiz 1752
-
(2012)
Blood
, vol.120
, pp. 1570-1580
-
-
Iland, H.J.1
Bradstock, K.2
Supple, S.G.3
-
37
-
-
84892940228
-
Oral tetra-arsenic tetra-sulfide formula versus intravenous arsenic trioxide as first-line treatment of acute promyelocytic leukemia: A multicenter randomized controlled trial
-
Zhu HH, Wu DP, Jin J, et al: Oral tetra-arsenic tetra-sulfide formula versus intravenous arsenic trioxide as first-line treatment of acute promyelocytic leukemia: A multicenter randomized controlled trial. J Clin Oncol 31:4215-4221, 2013
-
(2013)
J Clin Oncol
, vol.31
, pp. 4215-4221
-
-
Zhu, H.H.1
Wu, D.P.2
Jin, J.3
-
38
-
-
84878269566
-
A phase I trial of arsenic trioxide chemoradiotherapy for infiltrating astrocytomas of childhood
-
Cohen KJ, Gibbs IC, Fisher PG, et al: A phase I trial of arsenic trioxide chemoradiotherapy for infiltrating astrocytomas of childhood. Neuro Oncol 15:783-787, 2013
-
(2013)
Neuro Oncol
, vol.15
, pp. 783-787
-
-
Cohen, K.J.1
Gibbs, I.C.2
Fisher, P.G.3
-
39
-
-
81155159643
-
Consensus statement from the first International Colloquium on Basal Cell Nevus Syndrome (BCNS)
-
Bree AF, Shah MR: Consensus statement from the first International Colloquium on Basal Cell Nevus Syndrome (BCNS). Am J Med Genet A 155A:2091-2097, 2011
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 2091-2097
-
-
Bree, A.F.1
Shah, M.R.2
|